Canonical Allele Identifier: CA388674985

Gene: ERCC5 BIVM-ERCC5

Linked Data

• dbSNP Id: rs1248798110
• gnomAD v2: 13-103527949-G-A
• gnomAD v4: 13-102875599-G-A
• MyVariant Identifiers: chr13:g.103527949G>A (hg19) ; chr13:g.102875599G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.102875599G>A , CM000675.2:g.102875599G>A	GRCh38
NC_000013.10:g.103527949G>A , CM000675.1:g.103527949G>A	GRCh37
NC_000013.9:g.102325950G>A	NCBI36
NG_007146.1:g.34776G>A , LRG_464:g.34776G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682632.1:n.4358G>A (ERCC5)
ENST00000682869.1:n.3906G>A (ERCC5)
ENST00000683246.1:n.4894G>A (ERCC5)
ENST00000683642.1:n.3487G>A (ERCC5)
ENST00000639132.1:c.3932G>A (BIVM-ERCC5)	ENSP00000492684.1:p.Gly1311Glu
ENST00000639435.1:c.4619G>A (BIVM-ERCC5)	ENSP00000491742.1:p.Gly1540Glu
ENST00000651002.1:c.*3018G>A (ERCC5)	ENSP00000498809.1:n.*3018G>A
ENST00000651055.1:n.3384G>A (ERCC5)
ENST00000651281.1:n.3625G>A (ERCC5)
ENST00000651387.1:n.2741G>A (ERCC5)
ENST00000651470.1:c.*429G>A (ERCC5)	ENSP00000498701.1:n.*429G>A
ENST00000652225.2:c.3257G>A (ERCC5) MANE Select	ENSP00000498881.2:p.Gly1086Glu
ENST00000652613.1:c.2753G>A (ERCC5)	ENSP00000498357.1:p.Gly918Glu
ENST00000355739.8:c.3257G>A (ERCC5)	ENSP00000347978.4:p.Gly1086Glu
ENST00000375954.1:c.956G>A (ERCC5)	ENSP00000365121.1:p.Gly319Glu
ENST00000472247.1:n.417G>A (ERCC5)
ENST00000610537.4:c.3254G>A (ERCC5)	ENSP00000478667.1:p.Gly1085Glu
NM_000123.3:c.3257G>A , LRG_464t1:c.3257G>A (ERCC5)	NP_000114.2:p.Gly1086Glu
NM_001204425.1:c.4619G>A (BIVM-ERCC5)	NP_001191354.1:p.Gly1540Glu
NM_000123.4:c.3257G>A (ERCC5) MANE Select	NP_000114.3:p.Gly1086Glu
NM_001204425.2:c.4619G>A (BIVM-ERCC5)	NP_001191354.2:p.Gly1540Glu